"GeneDx"[submitter] AND "F13B"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 294566	NM_001994.3(F13B):c.*143G>A	F13B	Single nucleotide variant (3 prime UTR variant)	Factor XIII, b subunit, deficiency of +1 more	GBenign
Select item 1270193	NM_001994.3(F13B):c.1953-56T>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245718	NM_001994.3(F13B):c.1952+144C>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258504	NM_001994.3(F13B):c.1806T>C (p.Asn602=)	F13B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 294573	NM_001994.3(F13B):c.1670A>G (p.His557Arg)	F13B (H557R)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GUncertain significance
Select item 1239637	NM_001994.3(F13B):c.1556-310C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248848	NM_001994.3(F13B):c.1355-133_1355-130del	F13B	Deletion (intron variant)	not provided	GBenign
Select item 1257939	NM_001994.3(F13B):c.1354+202C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 294576	NM_001994.3(F13B):c.1163A>T (p.Glu388Val)	F13B (E388V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1263306	NM_001994.3(F13B):c.806-77T>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270637	NM_001994.3(F13B):c.806-251A>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288970	NM_001994.3(F13B):c.806-300T>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227332	NM_001994.3(F13B):c.805+151C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258505	NM_001994.3(F13B):c.456A>G (p.Thr152=)	F13B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1232490	NM_001994.3(F13B):c.452-33del	F13B	Deletion (intron variant)	not provided	GBenign
Select item 1245280	NM_001994.3(F13B):c.452-112T>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266711	NM_001994.3(F13B):c.451+85T>A	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16520	NM_001994.3(F13B):c.344G>A (p.Arg115His)	F13B (R115H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1274371	NM_001994.3(F13B):c.65-158G>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 20